Health Encyclopedia

Hemochromatosis

Definition

Hemochromatosis is a condition in which the body builds up too much iron. Two types of hemochromatosis are:

Primary or Hereditary Hemochromatosis (HH)

This type is caused by inherited genes and includes juvenile hemochromatosis. These genes cause the stomach and intestines to absorb too much iron. It is the most common genetic disorder in the United States.

Secondary Hemochromatosis

This type results from treatments or diseases that cause iron to build up in the body. This may include:

This type results from treatments or diseases that cause iron to build up in the body. This may include:

If found, early HH is easily treated. Untreated HH can lead to severe organ damage. Excess iron builds up in the cells of the liver, heart, pancreas, joints, and pituitary gland. This leads to diseases such as
cirrhosis
of the liver,
liver cancer,
diabetes,
heart disease, and joint disease.

Causes

HH is caused by a genetic defect. It is passed down through autosomal recessive inheritance. This means a child who inherits 2 genes, 1 from each parent, is very likely to develop HH. However, not all people who have 2 copies of the gene develop signs and symptoms of HH.

Risk Factors

Hemochromatosis usually present in men between 30-50 years old and in women over 50 years old (postmenopausal). Factors that increase your chance for developing HH include:

Family members with hemochromatosis

Western or Northern European ancestry

Alcoholism, which can lead to liver disease and secondary hemochromatosis

Symptoms

Many people have no symptoms when they are diagnosed. However, when they occur, symptoms may include:

Joint pain

Fatigue, lack of energy

Abdominal pain

Loss of sex drive

Complications may include:

Heart problems

Damage to the adrenal gland and resulting adrenal insufficiency

If the disease is not treated early, iron may build up in body tissues. This may eventually lead to serious problems such as:

Treatment

Treatment is simple, inexpensive, and safe.

Blood Removal

The first step is to rid the body of excess iron. The process is called phlebotomy. This means removing blood. The schedule will depend on how severe the iron overload is. A pint of blood will be taken once or twice a week for several months to a year. It may last longer.
When iron levels return to normal, maintenance therapy is given. A pint of blood is given every 2 to 4 months for life. Some people may need it more often. Female patients may need to increase their schedule after menopause.

The first step is to rid the body of excess iron. The process is called phlebotomy. This means removing blood. The schedule will depend on how severe the iron overload is. A pint of blood will be taken once or twice a week for several months to a year. It may last longer.
When iron levels return to normal, maintenance therapy is given. A pint of blood is given every 2 to 4 months for life. Some people may need it more often. Female patients may need to increase their schedule after menopause.

Lifestyle Changes

Lifestyle changes include steps to reduce the amount of iron you consume and/or absorb, and to help protect your liver:

Do not eat red meat or raw shellfish.

Do not take vitamin C supplements.

Do not take iron supplements.

Avoid alcohol.

Treating Associated Medical Conditions

You may need to be treated for other conditions that have developed. Hemochromatosis can cause these to develop:

Diabetes

Liver cirrhosis

Heart failure

Enlargement of the spleen

Prevention

Screening for hemochromatosis is not a routine part of medical care. Researchers and public health officials do have some suggestions:

Brothers and sisters of people who have hemochromatosis should have their blood tested. This will help identify those who have the disease or are carriers.

Parents, children, and other close relatives of people who have the disease should consider testing.

A genetic counselor can help you review your family history, determine your specific risks, and review the appropriate testing.

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.